ArticleJournal of pediatric genetics2020
22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature.
Article in Journal of pediatric genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome.Case reports in genetics · 2026Article
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.Pediatric endocrinology, diabetes, and metabolism · 2023Review
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Authors and funding
2 authors.
Funding
Abstract
We present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findings with similar cases from the literature sharing the same 22q11.2 duplications. These rare duplications in our subjects were identified by high-resolution chromosomal microarray analysis and flanked by low copy repeats in the 22q11.2 region, specifically LCR22A, LCR22B, and LCR22D. The typical 22q11.2 defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome and not duplications of varying sizes as seen in our male subjects.
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